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• ERN-ITHACA webinar: TSC-associated neuropsychiatric disorders and the TANDem project

  Educational videos

• Protein losing enteropathy (PLE) in Myhre syndrome

  Myhre syndrome

  Call for Collaboration

• Understanding the clinical and molecular variability of SMARCA4-related disorder

  SMARCA4, Coffin-Siris syndrome

  Call for Collaboration

• ERN-ITHACA Webinar: Navigating Angelman syndrome in clinical practice

  Educational videos

• Exploring the clinical and molecular variability of RATARS

  SPEN/RATARS

  Call for Collaboration

• ERDERA

  ERDERA

• Deep phenotyping and natural history of NDUFV1-related mitochondrial disorder

  NDUFV1

  Call for Collaboration

• Registration form

  EuroDysmorpho 2025

• ASH1L-Related Disorder

  ASH1L

  Call for Collaboration

• ERN-ITHACA Webinar “With the patient in the middle: focus on the whole family – a Norwegian model”

  Educational videos